| - GRCh37:
- Chr5:172659784
- GRCh38:
- Chr5:173232781
| NKX2-5 | A255T | Inborn genetic diseases, Hypoplastic left heart syndrome 2, Tetralogy of Fallot,
Conotruncal heart malformations, Atrial septal defect 7, Ventricular septal defect 3,
Hypothyroidism, congenital, nongoitrous, 5, Atrial septal defect 7 | Uncertain significance
(Feb 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172660177
- GRCh38:
- Chr5:173233174
| NKX2-5 | K124E | Atrial septal defect 7, Conotruncal heart malformations, Hypothyroidism, congenital, nongoitrous, 5,
Atrial septal defect 7, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Tetralogy of Fallot | Uncertain significance
(Feb 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172660053
- GRCh38:
- Chr5:173233050
| NKX2-5 | A165V | Atrial septal defect 7, not provided, Atrial septal defect 7,
Conotruncal heart malformations, Hypothyroidism, congenital, nongoitrous, 5, Tetralogy of Fallot,
Ventricular septal defect 3, Hypoplastic left heart syndrome 2, Cardiovascular phenotype
| Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172660037
- GRCh38:
- Chr5:173233034
| NKX2-5 | Q170H | Atrial septal defect 7, Tetralogy of Fallot, Conotruncal heart malformations,
Atrial septal defect 7, Hypothyroidism, congenital, nongoitrous, 5, Ventricular septal defect 3,
Hypoplastic left heart syndrome 2 | Uncertain significance
(Oct 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172660416
- GRCh38:
- Chr5:173233413
| NKX2-5 | | Hypothyroidism, congenital, nongoitrous, 5 | Likely pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:172659654
- GRCh38:
- Chr5:173232651
| NKX2-5 | G298E | not provided, Ventricular septal defect 3, Hypothyroidism, congenital, nongoitrous, 5,
Tetralogy of Fallot, Hypoplastic left heart syndrome 2, Conotruncal heart malformations,
Atrial septal defect 7 | Uncertain significance
(Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659905-172659906
- GRCh38:
- Chr5:173232902-173232903
| NKX2-5 | | Atrial septal defect 7, Atrial septal defect 7, Hypothyroidism, congenital, nongoitrous, 5,
Ventricular septal defect 3, Hypoplastic left heart syndrome 2, Tetralogy of Fallot,
Conotruncal heart malformations | Uncertain significance
(Mar 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172661839
- GRCh38:
- Chr5:173234836
| NKX2-5 | A83G | Cardiovascular phenotype, Atrial septal defect 7, Atrial septal defect 7,
Conotruncal heart malformations, Hypothyroidism, congenital, nongoitrous, 5, Tetralogy of Fallot,
Ventricular septal defect 3, Hypoplastic left heart syndrome 2 | Uncertain significance
(Jun 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172661918
- GRCh38:
- Chr5:173234915
| NKX2-5 | A57S | not provided, Tetralogy of Fallot, Conotruncal heart malformations,
Ventricular septal defect 3, Hypoplastic left heart syndrome 2, Atrial septal defect 7,
Hypothyroidism, congenital, nongoitrous, 5, Atrial septal defect 7 | Uncertain significance
(Jul 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172660026
- GRCh38:
- Chr5:173233023
| NKX2-5 | V174G | Atrial septal defect 7, Conotruncal heart malformations, Hypothyroidism, congenital, nongoitrous, 5,
Tetralogy of Fallot, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Atrial septal defect 7 | Uncertain significance
(Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172661909
- GRCh38:
- Chr5:173234906
| NKX2-5 | E60Q | Cardiovascular phenotype, Atrial septal defect 7, Conotruncal heart malformations,
Hypothyroidism, congenital, nongoitrous, 5, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Tetralogy of Fallot, not provided, Atrial septal defect 7
| Uncertain significance
(Sep 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659897
- GRCh38:
- Chr5:173232894
| NKX2-5 | R217K | Atrial septal defect 7, Atrial septal defect 7, Conotruncal heart malformations,
Ventricular septal defect 3, Hypoplastic left heart syndrome 2, Hypothyroidism, congenital, nongoitrous, 5,
Tetralogy of Fallot | Uncertain significance
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172660160
- GRCh38:
- Chr5:173233157
| NKX2-5 | N129K | Tetralogy of Fallot, Atrial septal defect 7, Conotruncal heart malformations,
Ventricular septal defect 3, Hypoplastic left heart syndrome 2, Hypothyroidism, congenital, nongoitrous, 5,
Atrial septal defect 7 | Uncertain significance
(Nov 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659912
- GRCh38:
- Chr5:173232909
| NKX2-5 | P212R | Atrial septal defect 7, not provided, Ventricular septal defect 3,
Hypoplastic left heart syndrome 2, Conotruncal heart malformations, Hypothyroidism, congenital, nongoitrous, 5,
Tetralogy of Fallot, Atrial septal defect 7 | Uncertain significance
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659662
- GRCh38:
- Chr5:173232659
| NKX2-5 | F295L | Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7,
Conotruncal heart malformations, Tetralogy of Fallot, Hypothyroidism, congenital, nongoitrous, 5,
Ventricular septal defect 3, Hypoplastic left heart syndrome 2 | Uncertain significance
(Jul 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172661991
- GRCh38:
- Chr5:173234988
| NKX2-5 | E32D | Hypothyroidism, congenital, nongoitrous, 5, Conotruncal heart malformations, Tetralogy of Fallot,
Atrial septal defect 7, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Atrial septal defect 7 | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172661899
- GRCh38:
- Chr5:173234896
| NKX2-5 | A63V | Atrial septal defect 7, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Tetralogy of Fallot, Conotruncal heart malformations, Hypothyroidism, congenital, nongoitrous, 5,
Atrial septal defect 7, NKX2-5-related condition, Cardiovascular phenotype,
not provided | Conflicting interpretations of pathogenicity
(Mar 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:172659705
- GRCh38:
- Chr5:173232702
| NKX2-5 | A281E | Cardiovascular phenotype, Atrial septal defect 7, Conotruncal heart malformations,
Hypothyroidism, congenital, nongoitrous, 5, Tetralogy of Fallot, Ventricular septal defect 3,
Hypoplastic left heart syndrome 2, Atrial septal defect 7 | Uncertain significance
(Jan 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659938
- GRCh38:
- Chr5:173232935
| NKX2-5 | | Cardiovascular phenotype, not provided, Atrial septal defect 7,
Hypothyroidism, congenital, nongoitrous, 5, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Conotruncal heart malformations, Tetralogy of Fallot, Atrial septal defect 7
| Likely benign
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659724
- GRCh38:
- Chr5:173232721
| NKX2-5 | P275T | Atrial septal defect 7, Cardiovascular phenotype, Hypothyroidism, congenital, nongoitrous, 5,
Atrial septal defect 7, Tetralogy of Fallot, Conotruncal heart malformations,
Ventricular septal defect 3, Hypoplastic left heart syndrome 2, not provided
| Likely benign
(Jul 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659655-172659656
- GRCh38:
- Chr5:173232652-173232653
| NKX2-5 | G298fs | Conotruncal heart malformations, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Hypothyroidism, congenital, nongoitrous, 5, Tetralogy of Fallot, Atrial septal defect 7,
Atrial septal defect 7, Inborn genetic diseases, not specified
| Uncertain significance
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659794
- GRCh38:
- Chr5:173232791
| NKX2-5 | N251K | Cardiovascular phenotype, Atrial septal defect 7, Conotruncal heart malformations,
Tetralogy of Fallot, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Hypothyroidism, congenital, nongoitrous, 5, Atrial septal defect 7 | Uncertain significance
(Jul 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172660099
- GRCh38:
- Chr5:173233096
| NKX2-5 | V150I | not provided, Cardiovascular phenotype, Atrial septal defect 7,
Conotruncal heart malformations, Tetralogy of Fallot, Ventricular septal defect 3,
Hypoplastic left heart syndrome 2, Hypothyroidism, congenital, nongoitrous, 5, Atrial septal defect 7
| Uncertain significance
(Jun 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172660055
- GRCh38:
- Chr5:173233052
| NKX2-5 | | Atrial septal defect 7, Conotruncal heart malformations, Tetralogy of Fallot,
Hypothyroidism, congenital, nongoitrous, 5, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Atrial septal defect 7, Cardiovascular phenotype, not specified
| Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172661976
- GRCh38:
- Chr5:173234973
| NKX2-5 | | Cardiovascular phenotype, Conotruncal heart malformations, Tetralogy of Fallot,
Hypothyroidism, congenital, nongoitrous, 5, Atrial septal defect 7, Ventricular septal defect 3,
Hypoplastic left heart syndrome 2, Atrial septal defect 7, not specified
| Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:172662022
- GRCh38:
- Chr5:173235019
| NKX2-5 | Q22P | not provided, Cardiovascular phenotype, Atrial septal defect 7,
Ventricular septal defect 3, Hypothyroidism, congenital, nongoitrous, 5, Tetralogy of Fallot,
Hypoplastic left heart syndrome 2, Conotruncal heart malformations, Atrial septal defect 7
| Uncertain significance
(Mar 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659674-172659676
- GRCh38:
- Chr5:173232671-173232673
| NKX2-5 | N291del | Cardiovascular phenotype, Atrial septal defect 7, Hypoplastic left heart syndrome 2,
Ventricular septal defect 3, Hypothyroidism, congenital, nongoitrous, 5, Atrial septal defect 7,
Tetralogy of Fallot, Conotruncal heart malformations | Uncertain significance
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659720
- GRCh38:
- Chr5:173232717
| NKX2-5 | A276G | Cardiovascular phenotype, not provided, Atrial septal defect 7,
Atrial septal defect 7, Conotruncal heart malformations, Ventricular septal defect 3,
Hypoplastic left heart syndrome 2, Hypothyroidism, congenital, nongoitrous, 5, Tetralogy of Fallot
| Uncertain significance
(Jan 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659695
- GRCh38:
- Chr5:173232692
| NKX2-5 | | Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7,
Conotruncal heart malformations, Tetralogy of Fallot, Hypothyroidism, congenital, nongoitrous, 5,
Ventricular septal defect 3, Hypoplastic left heart syndrome 2, not provided
| Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172660191
- GRCh38:
- Chr5:173233188
| NKX2-5 | A119E | Ventricular septal defect 3, Hypoplastic left heart syndrome 2, Hypothyroidism, congenital, nongoitrous, 5,
Atrial septal defect 7, Tetralogy of Fallot, Conotruncal heart malformations,
not provided, Atrial septal defect 7, Cardiovascular phenotype,
not specified | Uncertain significance
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659778
- GRCh38:
- Chr5:173232775
| NKX2-5 | P257T | Cardiovascular phenotype, Atrial septal defect 7, Conotruncal heart malformations,
Ventricular septal defect 3, Hypoplastic left heart syndrome 2, Hypothyroidism, congenital, nongoitrous, 5,
Tetralogy of Fallot, Atrial septal defect 7, not provided
| Uncertain significance
(Dec 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659957
- GRCh38:
- Chr5:173232954
| NKX2-5 | R197P | Cardiovascular phenotype, Atrial septal defect 7, Ventricular septal defect 3,
Hypoplastic left heart syndrome 2, Conotruncal heart malformations, Tetralogy of Fallot,
Hypothyroidism, congenital, nongoitrous, 5, not provided, Atrial septal defect 7
| Uncertain significance
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172660374
- GRCh38:
- Chr5:173233371
| NKX2-5 | R143Q | Atrial septal defect 7, Atrial septal defect 7, Hypothyroidism, congenital, nongoitrous, 5,
Ventricular septal defect 3, Hypoplastic left heart syndrome 2, Conotruncal heart malformations,
Tetralogy of Fallot, not provided | Benign/Likely benign
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659764
- GRCh38:
- Chr5:173232761
| NKX2-5 | A262fs | Atrial septal defect 7, Conotruncal heart malformations, Hypothyroidism, congenital, nongoitrous, 5,
Tetralogy of Fallot, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Malformation of the heart and great vessels, not provided, Atrial septal defect 7
| Pathogenic/Likely pathogenic
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659699
- GRCh38:
- Chr5:173232696
| NKX2-5 | P283Q | Cardiovascular phenotype, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Conotruncal heart malformations, Atrial septal defect 7, Tetralogy of Fallot,
Hypothyroidism, congenital, nongoitrous, 5, not provided, Atrial septal defect 7
| Uncertain significance
(Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172660065
- GRCh38:
- Chr5:173233062
| NKX2-5 | R161P | not provided | Uncertain significance
(Oct 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:172660192
- GRCh38:
- Chr5:173233189
| NKX2-5 | A119S | Cardiovascular phenotype, not specified, not provided,
Atrial septal defect 7 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659891
- GRCh38:
- Chr5:173232888
| NKX2-5 | A219V | Cardiovascular phenotype, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Hypothyroidism, congenital, nongoitrous, 5, Atrial septal defect 7, Tetralogy of Fallot,
Conotruncal heart malformations, Atrial septal defect 7 | Uncertain significance
(Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659901
- GRCh38:
- Chr5:173232898
| NKX2-5 | R216C | Ventricular septal defect 3, Hypoplastic left heart syndrome 2, Hypothyroidism, congenital, nongoitrous, 5,
Tetralogy of Fallot, Conotruncal heart malformations, Atrial septal defect 7,
not provided | Uncertain significance
(Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172662014
- GRCh38:
- Chr5:173235011
| NKX2-5 | R25C | Cardiovascular phenotype, not provided, not specified,
Atrial septal defect 7 | Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |